ClinVar Miner

List of variants reported as likely pathogenic for B cell deficiency by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_013314.4(BLNK):c.746+1G>A rs2083906060

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.